OR2AG1

Summary

OR2AG1 (olfactory receptor family 2 subfamily AG member 1, HGNC:15142) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 2AG1 (Q9H205). Odorant receptor.

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 144125 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_001004489

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15142
Approved symbol	OR2AG1
Name	olfactory receptor family 2 subfamily AG member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279486
Ensembl biotype	protein_coding
Entrez	144125

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000641258, ENST00000641344

RefSeq mRNA: 1 — MANE Select: NM_001004489 NM_001004489

CCDS: CCDS31414

Canonical transcript exons

ENST00000641258 — 2 exons

Exon	Start	End
ENSE00003812810	6785018	6791558
ENSE00003813746	6783020	6783471

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 59.80.

Top tissues by expression

112 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	59.80	silver quality
sural nerve	UBERON:0015488	50.33	silver quality
stromal cell of endometrium	CL:0002255	48.32	gold quality
cortical plate	UBERON:0005343	46.96	gold quality
colonic epithelium	UBERON:0000397	45.30	gold quality
primary visual cortex	UBERON:0002436	43.18	gold quality
ventricular zone	UBERON:0003053	43.15	gold quality
superior frontal gyrus	UBERON:0002661	40.76	silver quality
lower esophagus mucosa	UBERON:0035834	38.71	gold quality
prefrontal cortex	UBERON:0000451	38.55	silver quality
tonsil	UBERON:0002372	38.37	silver quality
calcaneal tendon	UBERON:0003701	38.32	gold quality
skeletal muscle tissue	UBERON:0001134	38.12	gold quality
lymph node	UBERON:0000029	37.92	gold quality
endometrium	UBERON:0001295	37.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	36.95	gold quality
muscle tissue	UBERON:0002385	36.73	gold quality
monocyte	CL:0000576	35.75	gold quality
adrenal tissue	UBERON:0018303	35.72	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.62	gold quality
leukocyte	CL:0000738	35.49	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
mucosa of stomach	UBERON:0001199	35.31	gold quality
mucosa of transverse colon	UBERON:0004991	35.21	gold quality
nucleus accumbens	UBERON:0001882	34.86	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	34.61	gold quality
myometrium	UBERON:0001296	34.26	gold quality
uterine cervix	UBERON:0000002	33.82	gold quality
cortex of kidney	UBERON:0001225	33.78	gold quality
right coronary artery	UBERON:0001625	33.77	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.56

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• The Hsc70t helps expression of OR2AG1 in heterologous cell systems and helped the characterization of an “orphan” human olfactory receptor. (PMID:16565291)
• OR2AG1 binds beta-arrestin2 with high affinity and is internalized via a clathrin-dependent mechanism. (PMID:17005854)

Cross-species orthologs

23 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2ag2b	ENSMUSG00000036744
mus_musculus	Or2ag15	ENSMUSG00000051591
mus_musculus	Or2ag12	ENSMUSG00000051680
mus_musculus	Or2ag16	ENSMUSG00000059087
mus_musculus	Or2ag1b	ENSMUSG00000064223
mus_musculus	Or2ag20	ENSMUSG00000073900
mus_musculus	Or2ag19	ENSMUSG00000073901
mus_musculus	Or2ag18	ENSMUSG00000094493
mus_musculus	Or2ag17	ENSMUSG00000096714
mus_musculus	Or2ag13	ENSMUSG00000108948
mus_musculus	Or2ag1	ENSMUSG00000109058
mus_musculus	Or2ag2	ENSMUSG00000109354
rattus_norvegicus	Or2ag13	ENSRNOG00000071662
rattus_norvegicus	Or2ag17	ENSRNOG00000071858
rattus_norvegicus	Or2ag19	ENSRNOG00000074688
rattus_norvegicus	Or2ag19b	ENSRNOG00000075057
rattus_norvegicus	Or2ag2b	ENSRNOG00000077498
rattus_norvegicus	Or2ag1	ENSRNOG00000082291
rattus_norvegicus	Or2ag16	ENSRNOG00000084648
rattus_norvegicus	Or2ag20	ENSRNOG00000084956
rattus_norvegicus	Or2ag18	ENSRNOG00000087935
rattus_norvegicus	Or2ag16b	ENSRNOG00000091000
rattus_norvegicus	Or2ag2	ENSRNOG00000091170

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310)

Protein

Protein identifiers

Olfactory receptor 2AG1 — Q9H205 (reviewed: Q9H205)

Alternative names: HT3, Olfactory receptor 2AG3, Olfactory receptor OR11-79

All UniProt accessions (2): A0A126GVD0, Q9H205

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001004489* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 3, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H205-F1	85.27	0.45

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 97–189

Glycosylation sites (2): 5, 19

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 18 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

192 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2AG1	ACVRL1	P37023	909
OR2AG1	ENG	P17813	775
OR2AG1	SMAD4	Q13485	695
OR2AG1	ZNF79	Q15937	669
OR2AG1	GDF2	Q9UK05	580
OR2AG1	MPDZ	O75970	505
OR2AG1	LNX1	Q8TBB1	455
OR2AG1	BMPR2	Q13873	449
OR2AG1	COL5A1	P20908	436
OR2AG1	OR1D5	P58170	405
OR2AG1	OR1D2	P34982	371
OR2AG1	CNGA4	Q8IV77	351
OR2AG1	SLC25A46	Q96AG3	348
OR2AG1	RNF151	Q2KHN1	327
OR2AG1	CBLL2	Q8N7E2	323

IntAct

9 interactions, top by confidence:

A	B	Type	Score
MPDZ	OR2AG1	psi-mi:“MI:0915”(physical association)	0.610
MPDZ	OR2AG1	psi-mi:“MI:0407”(direct interaction)	0.610
OR2AG1	MPDZ	psi-mi:“MI:0407”(direct interaction)	0.610

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

59 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	6
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

176 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6785399:ACAGG:A	donor_loss	0.9500
11:6785403:GTAT:G	donor_loss	0.9500
11:6785404:T:G	donor_loss	0.9500
11:6785821:CCCAG:C	acceptor_gain	0.8900
11:6785191:G:GT	donor_gain	0.8800
11:6785822:CCAG:C	acceptor_gain	0.8800
11:6785823:CAG:C	acceptor_gain	0.8800
11:6785820:GCCCA:G	acceptor_gain	0.8700
11:6785824:A:T	acceptor_gain	0.8700
11:6785825:G:T	acceptor_gain	0.8700
11:6785063:G:GT	donor_gain	0.8000
11:6785362:G:GA	donor_gain	0.7400
11:6785063:G:T	donor_gain	0.7300
11:6785874:A:AG	acceptor_gain	0.7100
11:6785403:G:GG	donor_gain	0.6900
11:6785398:GACAG:G	donor_gain	0.6400
11:6785673:T:A	acceptor_gain	0.6000
11:6785545:AG:A	acceptor_gain	0.5700
11:6785546:GG:G	acceptor_gain	0.5700
11:6785679:ACT:A	acceptor_gain	0.5700
11:6785739:G:GT	donor_gain	0.5600
11:6785361:T:TA	donor_gain	0.5500
11:6785681:T:A	acceptor_gain	0.5400
11:6785873:C:G	acceptor_gain	0.5300
11:6785400:CAG:C	donor_gain	0.5100
11:6785824:A:AG	acceptor_gain	0.5100
11:6785825:G:GG	acceptor_gain	0.5100
11:6785098:A:AG	donor_gain	0.4800
11:6785099:G:GG	donor_gain	0.4800
11:6785545:A:AG	acceptor_gain	0.4800

AlphaMissense

2055 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:6785071:T:C	F12L	0.951
11:6785073:C:A	F12L	0.951
11:6785073:C:G	F12L	0.951
11:6785908:A:C	S291R	0.928
11:6785910:C:A	S291R	0.928
11:6785910:C:G	S291R	0.928
11:6785788:T:C	F251L	0.915
11:6785790:C:A	F251L	0.915
11:6785790:C:G	F251L	0.915
11:6785539:T:C	F168L	0.913
11:6785541:C:A	F168L	0.913
11:6785541:C:G	F168L	0.913
11:6785158:A:C	S41R	0.896
11:6785160:C:A	S41R	0.896
11:6785160:C:G	S41R	0.896
11:6785072:T:G	F12C	0.888
11:6785391:G:A	M118I	0.885
11:6785391:G:C	M118I	0.885
11:6785391:G:T	M118I	0.885
11:6785072:T:C	F12S	0.873
11:6785895:T:A	N286K	0.863
11:6785895:T:G	N286K	0.863
11:6785341:T:C	F102L	0.855
11:6785343:C:A	F102L	0.855
11:6785343:C:G	F102L	0.855
11:6785678:T:A	I214K	0.850
11:6785337:G:C	Q100H	0.841
11:6785337:G:T	Q100H	0.841
11:6785572:T:A	C179S	0.840
11:6785573:G:C	C179S	0.840

dbSNP variants (sampled 300 via entrez): RS1000253615 (11:6786893 A>G), RS1000360855 (11:6781130 G>T), RS1000728347 (11:6789497 A>G), RS1000796345 (11:6783656 A>C), RS1000977663 (11:6783923 G>A), RS1001824354 (11:6788822 GC>G), RS1002004546 (11:6781876 T>C), RS1002113998 (11:6787373 C>A,G,T), RS1002338365 (11:6783067 C>A,G), RS1002600974 (11:6783197 A>G), RS1002792872 (11:6786213 A>C), RS1003889727 (11:6788768 T>C), RS1004008006 (11:6784492 G>T), RS1004227606 (11:6791905 A>G), RS1004365429 (11:6786283 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003030_4	Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder	3.000000e-06
GCST009391_101	Metabolite levels	6.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007679	oppositional defiant disorder measurement
EFO:0009767	glycine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Zinc	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.